Mutatsioonijälgi

Mutatsioonijälgi refers to the identifiable record of genetic alterations that can be traced through a sequence of organisms, cells, or genomic regions. The term combines the Estonian words for “mutation” (mutatsioon) and “track” or “trace” (jälgi). In molecular genetics, a mutatsioonijälgi represents a series of nucleotides or structural changes that have accumulated over time and that can be used to reconstruct evolutionary pathways, infer ancestral states, or identify the origin of a particular genetic change.

The primary methods used to identify mutatsioonijälgi involve high-throughput sequencing and comparative genomics. By aligning sequences from different individuals or species, researchers detect single-nucleotide variants, insertions, deletions, and larger structural rearrangements. Phylogenetic algorithms then model the likelihood of each mutation occurring on a given branch of a tree, thereby generating a mutational trajectory. In cancer genomics, mutatsioonijälgi analysis helps to differentiate driver mutations that promote tumorigenesis from passenger mutations that are neutral.

Practically, mutatsioonijälgi are critical for tracking pathogen evolution, such as the spread of viral variants, and for monitoring antibiotic resistance. In population genetics, these tracks illuminate migration patterns and demographic events. The accuracy of mutatsioonijälgi reconstruction depends on sample size, sequencing depth, and the robustness of evolutionary models. Ongoing advances in single‑cell sequencing and long‑read technologies promise to refine mutatsioonijälgi resolution and expand their applications across biology and medicine.